Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.Q110R

GP9

147 papers

RefSeq Summary

This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex th...

Pfam Domains

LRRNTaa 19–50UCSCLeucine rich repeat N-terminal domain
LRR_8aa 50–86UCSCLeucine rich repeat

Gene Aliases

HGNC Name

glycoprotein IX platelet

HGNC Alias Symbols

CD42a; GPIX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000174.5
p.Q110R
c.329A>G
Surrounding Variants
4 papers
NM_000174.5
p.Q110*
c.328C>T
1 paper
NM_000174.5
p.L109R
c.326T>G
1 paper
NM_000174.5
p.L109insFs
c.327dupG
2 papers
NM_000174.5
p.C113Y
c.338G>A
1 paper
NM_000174.5
p.A107S
c.319G>T
1 paper
NM_000174.5
p.A114V
c.341C>T
1 paper
NM_000174.5
p.E106K
c.316G>A
1 paper
NM_000174.5
p.P105L
c.314C>T
1 paper
NM_000174.5
p.P105delFs
c.315delC
1 paper
NM_000174.5
p.S117N
c.350G>A
2 papers
NM_000174.5
p.D102_P105del0
c.305_313del9
1 paper
NM_000174.5
p.A119V
c.356C>T
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